Brief Report

Pediatric Nephrology

, Volume 21, Issue 11, pp 1776-1778

First online:

Paracellin-1 gene mutation with multiple congenital abnormalities

  • Mehmet TürkmenAffiliated withFaculty of Medicine, Department of Pediatrics, Dokuz Eylül University
  • , Belde KasapAffiliated withFaculty of Medicine, Department of Pediatrics, Dokuz Eylül University
  • , Alper SoyluAffiliated withFaculty of Medicine, Department of Pediatrics, Dokuz Eylül University
  • , Ece BöberAffiliated withFaculty of Medicine, Department of Pediatrics, Dokuz Eylül University
  • , Martin KonradAffiliated withUniversity Children’s Hospital
  • , Salih KavukçuAffiliated withFaculty of Medicine, Department of Pediatrics, Dokuz Eylül UniversityDivison of Nephrology, Department of Pediatrics, Dokuz Eylul University Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure. Mutations in the paracellin-1 (CLDN16) gene have been defined as the underlying genetic defect. The tubular disorders and progression in renal failure are usually resistant to magnesium substitution and hydrochlorothiazide therapy, but hypomagnesemia may improve with advanced renal insufficiency. We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months. He also had additional abnormalities including horseshoe kidney, neonatal teeth, atypical face, cardiac abnormalities including coarctation of the aorta associated with atrial and ventricular septal defects, umbilical hernia and hypertrichosis. To the best of our knowledge, this is the youngest case diagnosed as familial hypomagnesemia with hypercalciuria and nephrocalcinosis and the first case having such additional congenital abnormalities independent of the disease itself.

Keywords

Paracellin-1 Claudin-16 Multiple congenital abnormalities Hypomagnesemia Hypercalciuria Nephrocalcinosis